Medium-chain acyl-CoA dehydrogenase deficiency

R. J. Egidio, G. L. Francis, P. M. Coates, D. E. Hale, A. Roesel

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Abstract

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most frequently diagnosed defect in fatty acid metabolism and is one of the most common inborn errors of metabolism. Diagnosis may be difficult, since the disorder may present as hypoglycemia, sudden infant death syndrome or a Reye's syndrome-like illness. Because of the abrupt clinical deterioration seen with MCAD deficiency, as well as its treatable nature and its genetic implications, this disorder presents a significant challenge for family physicians.

Original languageEnglish (US)
Pages (from-to)221-226
Number of pages6
JournalAmerican family physician
Volume39
Issue number5
Publication statusPublished - Jan 1 1989

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ASJC Scopus subject areas

  • Family Practice

Cite this

Egidio, R. J., Francis, G. L., Coates, P. M., Hale, D. E., & Roesel, A. (1989). Medium-chain acyl-CoA dehydrogenase deficiency. American family physician, 39(5), 221-226.